Associated Papers
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Li M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.
Li YL et al.
Annals of Neurology, 2024
A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome.
Yan J et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
Perspectives on the basis of seizure-induced respiratory dysfunction.
Mulkey DK et al.
Frontiers in Neural Circuits, 2022
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Emerging Roles of Astrocyte Kir4.1 Channels in the Pathogenesis and Treatment of Brain Diseases.
Ohno Y et al.
International Journal of Molecular Sciences, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
Cucchiara F et al.
Sleep, 2020
Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.
Kinboshi M et al.
Frontiers in Neurology, 2020
Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders.
Sun C et al.
Life Sciences, 2018
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
Binda A et al.
Frontiers in Cellular Neuroscience, 2018
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F et al.
Scientific Reports, 2016
The role of glial-specific Kir4.1 in normal and pathological states of the CNS.
Nwaobi SE et al.
Acta Neuropathologica, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 2015
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013
Major channels involved in neuropsychiatric disorders and therapeutic perspectives.
Imbrici P et al.
Frontiers in Genetics, 2013
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
Sicca F et al.
Neurobiology of Disease, 2011